Canonical Allele Identifier: CA376708255

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461381-C-G
• MyVariant Identifiers: chr10:g.50669427C>G (hg19) ; chr10:g.49461381C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461381C>G , CM000672.2:g.49461381C>G	GRCh38
NC_000010.10:g.50669427C>G , CM000672.1:g.50669427C>G	GRCh37
NC_000010.9:g.50339433C>G	NCBI36
NG_009442.1:g.82721G>C , LRG_465:g.82721G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3954G>C MANE Select	ENSP00000348089.5:p.Arg1318Ser
ENST00000679552.1:n.1025G>C
ENST00000679871.1:n.1100G>C
ENST00000679974.1:n.1003G>C
ENST00000681632.1:n.5357G>C
ENST00000681659.1:c.3795G>C	ENSP00000505631.1:p.Arg1265Ser
ENST00000355832.9:c.3954G>C	ENSP00000348089.5:p.Arg1318Ser
ENST00000465653.1:n.276G>C
ENST00000623073.3:c.*2250G>C	ENSP00000485650.1:n.*2250G>C
ENST00000623115.3:c.2064G>C	ENSP00000485321.1:p.Arg688Ser
ENST00000624341.3:c.1786G>C
NM_000124.3:c.3954G>C	NP_000115.1:p.Arg1318Ser
XR_945953.1:n.243-10184C>G
NM_001346440.1:c.3954G>C	NP_001333369.1:p.Arg1318Ser
NM_000124.4:c.3954G>C MANE Select	NP_000115.1:p.Arg1318Ser
NM_001346440.2:c.3954G>C	NP_001333369.1:p.Arg1318Ser